ClinVar Miner

Submissions for variant NM_002968.3(SALL1):c.2544A>G (p.Gln848=)

gnomAD frequency: 0.00931  dbSNP: rs45459896
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250989 SCV000309276 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088388 SCV000630908 benign Townes syndrome 2024-01-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000525845 SCV001145357 benign not provided 2019-07-12 criteria provided, single submitter clinical testing
GeneDx RCV000525845 SCV001871512 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000525845 SCV002545789 benign not provided 2024-08-01 criteria provided, single submitter clinical testing SALL1: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000525845 SCV005289814 benign not provided criteria provided, single submitter not provided

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