ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.219C>T (p.Ile73=)

gnomAD frequency: 0.00003  dbSNP: rs774483464
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696128 SCV001913732 benign not provided 2020-11-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503150 SCV002806658 likely benign Townes-Brocks syndrome 1 2021-11-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002539686 SCV003325711 likely benign Townes syndrome 2023-07-07 criteria provided, single submitter clinical testing

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