ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.387C>T (p.Ala129=)

gnomAD frequency: 0.00027  dbSNP: rs147647889
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609960 SCV000729835 likely benign not specified 2017-06-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064380 SCV002427574 likely benign Townes syndrome 2023-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491295 SCV002797421 likely benign Townes-Brocks syndrome 1 2021-07-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003420068 SCV004139365 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing SALL1: BP4, BS2

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