ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1285C>T (p.His429Tyr) (rs142818334)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000251383 SCV000336728 benign not specified 2015-10-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327874 SCV000440087 likely benign Neonatal severe hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385213 SCV000440088 likely benign Familial hypocalciuric hypercalcemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283739 SCV000440089 likely benign Hypoparathyroidism familial isolated 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322558 SCV000440090 likely benign Hypocalcemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000227761 SCV000284781 benign Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000251383 SCV000306955 likely benign not specified criteria provided, single submitter clinical testing

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