ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.298+19A>G

gnomAD frequency: 0.00432  dbSNP: rs113817745
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001590222 SCV001826001 likely benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070450 SCV002392169 benign Congenital muscular hypertrophy-cerebral syndrome 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506693 SCV002807562 likely benign Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2021-09-13 criteria provided, single submitter clinical testing

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