ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu)

gnomAD frequency: 0.00004  dbSNP: rs372750171
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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 RCV002074421 SCV002435600 likely benign not provided 2023-10-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002074421 SCV003828151 uncertain significance not provided 2023-08-24 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849704 SCV002106686 likely pathogenic HANAC-like syndrome 2019-09-11 no assertion criteria provided literature only

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