ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala)

gnomAD frequency: 0.00048  dbSNP: rs547153228
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001691630 SCV001913445 benign not provided 2020-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073251 SCV002406845 benign Townes syndrome 2023-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496012 SCV002799266 likely benign Townes-Brocks syndrome 1 2021-12-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001691630 SCV004139349 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing SALL1: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003976010 SCV004787587 likely benign SALL1-related disorder 2022-09-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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