ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.6553G>A (p.Gly2185Arg)

gnomAD frequency: 0.00004  dbSNP: rs773262827
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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 RCV000916204 SCV001061437 benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002542139 SCV003725042 likely benign Inborn genetic diseases 2022-04-14 criteria provided, single submitter clinical testing This alteration is classified as likely 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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