ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.764G>A (p.Arg255His)

gnomAD frequency: 0.00007  dbSNP: rs782606119
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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 RCV001034190 SCV001197521 likely benign Congenital muscular hypertrophy-cerebral syndrome 2023-08-16 criteria provided, single submitter clinical testing
GeneDx RCV003314659 SCV004014379 uncertain significance not provided 2023-01-12 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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