ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=)

dbSNP: rs2146581314
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001403561 SCV001605433 likely benign Congenital muscular hypertrophy-cerebral syndrome 2020-05-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499859 SCV002809118 likely benign Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2022-01-04 criteria provided, single submitter clinical testing

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