ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.2565T>G (p.Pro855=)

gnomAD frequency: 0.00004  dbSNP: rs778734691
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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 RCV002091144 SCV002382661 likely benign Townes syndrome 2022-02-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498323 SCV002809985 likely benign Townes-Brocks syndrome 1 2022-03-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893257 SCV004716152 likely benign SALL1-related disorder 2023-09-20 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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