ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1934C>A (p.Ala645Asp)

dbSNP: rs193922430
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029437 SCV000052087 likely pathogenic Familial hypoparathyroidism 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.

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