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: 3
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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
Invitae RCV000544162 SCV000637462 benign Duane-radial ray syndrome 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001660342 SCV001873233 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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