ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.2331C>T (p.Asn777=)

gnomAD frequency: 0.00045  dbSNP: rs144747142
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001676474 SCV001893014 benign not provided 2020-02-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073181 SCV002364098 benign Townes syndrome 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496001 SCV002802804 likely benign Townes-Brocks syndrome 1 2021-10-19 criteria provided, single submitter clinical testing

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