ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.3107G>A (p.Arg1036Gln)

gnomAD frequency: 0.00020  dbSNP: rs150873722
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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 RCV002069422 SCV002402252 likely benign not provided 2024-03-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035464 SCV004930025 likely benign Inborn genetic diseases 2023-11-07 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.
Natera, Inc. RCV001278169 SCV001465165 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-11 no assertion criteria provided clinical testing

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