ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe)

gnomAD frequency: 0.00006  dbSNP: rs148835205
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001456061 SCV001659836 likely benign Congenital muscular hypertrophy-cerebral syndrome 2021-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503113 SCV002809676 likely benign Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2022-05-18 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000976394 SCV001978463 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000976394 SCV001980088 likely benign not provided no assertion criteria provided clinical testing

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