ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.3330T>C (p.Ser1110=)

gnomAD frequency: 0.00008  dbSNP: rs374166565
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557100 SCV001778800 likely benign not provided 2021-03-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501899 SCV002796212 likely benign Townes-Brocks syndrome 1 2021-12-23 criteria provided, single submitter clinical testing

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