ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2224C>T (p.Pro742Ser)

dbSNP: rs2464546834
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003120264 SCV003800398 pathogenic not provided 2022-04-15 criteria provided, single submitter clinical testing
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire RCV003222483 SCV005038537 pathogenic Congenital myopathy 18 2024-03-01 criteria provided, single submitter research PS2+PS3+PM1+PM2+PP3
OMIM RCV003222483 SCV003841107 pathogenic Congenital myopathy 18 2024-07-16 no assertion criteria provided literature only

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