ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.395C>A (p.Ser132Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795767 SCV005417985 likely pathogenic Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 criteria provided, single submitter clinical testing PVS1+PM2_Supporting

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