ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) (rs1801725)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000152933 SCV000612667 benign not specified 2017-07-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152933 SCV000202363 benign not specified 2014-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000152933 SCV000512484 benign not specified 2017-12-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000343555 SCV000440139 benign Familial hypocalciuric hypercalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405678 SCV000440140 benign Hypoparathyroidism familial isolated 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299158 SCV000440141 benign Neonatal severe hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356249 SCV000440142 benign Hypocalcemia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152933 SCV000711769 benign not specified 2017-06-05 criteria provided, single submitter clinical testing p.Ala996Ser in exon 7 of CASR: This variant is not expected to have clinical sig nificance because it has been identified in 19.5% (3223/16508) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs1801725).
OMIM RCV000008854 SCV000029064 association Serum calcium level 2018-07-25 no assertion criteria provided literature only
PreventionGenetics RCV000152933 SCV000306963 benign not specified criteria provided, single submitter clinical testing

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