ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.645C>G (p.Leu215=)

gnomAD frequency: 0.02226  dbSNP: rs61737139
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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 RCV000243827 SCV000313537 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000544162 SCV000637462 benign Duane-radial ray syndrome 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001660342 SCV001873233 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001660342 SCV005314582 benign not provided criteria provided, single submitter not provided

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