ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.1227C>T (p.Ile409=)

gnomAD frequency: 0.00009  dbSNP: rs368412604
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001985727 SCV002244556 likely benign Townes syndrome 2023-05-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479599 SCV002795206 likely benign Townes-Brocks syndrome 1 2022-01-25 criteria provided, single submitter clinical testing

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