ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.3665C>T (p.Ala1222Val)

gnomAD frequency: 0.00009  dbSNP: rs578198178
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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 RCV001674016 SCV001890020 benign not provided 2020-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073148 SCV002385210 likely benign Townes syndrome 2023-06-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001674016 SCV005216428 likely benign not provided criteria provided, single submitter not provided

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