ClinVar Miner

Submissions for variant NM_018419.3(SOX18):c.243C>T (p.Asp81=)

gnomAD frequency: 0.01962  dbSNP: rs144785707
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249216 SCV000313226 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000970761 SCV001118360 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000970761 SCV001864837 benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503945 SCV002797798 likely benign Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome 2021-08-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000970761 SCV005307071 benign not provided criteria provided, single submitter not provided

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