ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.478G>A (p.Gly160Ser)

gnomAD frequency: 0.00093  dbSNP: rs199760974
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248435 SCV000309290 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001696194 SCV001915987 benign not provided 2020-04-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854962 SCV002216794 likely benign Townes syndrome 2024-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001696194 SCV002585568 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing SALL1: BP4, BS1

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