ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.408T>C (p.Asn136=)

gnomAD frequency: 0.01190  dbSNP: rs76870996
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864319 SCV001005108 benign Duane-radial ray syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001613110 SCV001836368 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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