ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2064C>T (p.Phe688=) (rs150869744)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711032 SCV000841352 benign not provided 2017-12-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711032 SCV000336912 uncertain significance not provided 2015-11-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347538 SCV000440119 likely benign Hypocalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395248 SCV000440120 likely benign Neonatal severe hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302845 SCV000440121 likely benign Familial hypocalciuric hypercalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359832 SCV000440122 likely benign Hypoparathyroidism familial isolated 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000229099 SCV000284787 likely benign Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 2017-10-11 criteria provided, single submitter clinical testing

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