ClinVar Miner

Submissions for variant NM_018055.5(NODAL):c.548G>A (p.Arg183Gln)

gnomAD frequency: 0.00023  dbSNP: rs104894169
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081931 SCV000113866 uncertain significance not provided 2013-07-03 criteria provided, single submitter clinical testing
Invitae RCV000008757 SCV001728425 benign Heterotaxy, visceral, 5, autosomal 2023-11-13 criteria provided, single submitter clinical testing
OMIM RCV000008757 SCV000028966 pathogenic Heterotaxy, visceral, 5, autosomal 1997-11-01 no assertion criteria provided literature only

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