ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.1101G>A (p.Leu367=)

gnomAD frequency: 0.00003  dbSNP: rs782695048
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001484645 SCV001689065 likely benign Congenital muscular hypertrophy-cerebral syndrome 2024-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000952265 SCV001822972 likely benign not provided 2020-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427382 SCV002742038 benign Inborn genetic diseases 2019-05-24 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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