ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.3231C>T (p.Pro1077=)

gnomAD frequency: 0.00004  dbSNP: rs148808830
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 RCV002090379 SCV002322406 likely benign Townes syndrome 2022-08-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498112 SCV002804459 likely benign Townes-Brocks syndrome 1 2022-01-17 criteria provided, single submitter clinical testing

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