ClinVar Miner

Submissions for variant NM_018055.5(NODAL):c.700_723delinsTTGACTTCC (p.Arg234_Pro241delinsLeuThrSer)

dbSNP: rs2132214841
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002224592 SCV002502164 uncertain significance not provided 2022-02-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529103 SCV004107656 uncertain significance NODAL-related disorder 2023-05-16 criteria provided, single submitter clinical testing The NODAL c.700_723delinsTTGACTTCC variant is predicted to result in an in-frame deletion and insertion. lformations, and tachycardia (Table 2, Mohapatra et al. 2009. PubMed ID: 19064609). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Baylor Genetics RCV002291319 SCV005049433 likely pathogenic Heterotaxy, visceral, 5, autosomal 2024-01-30 criteria provided, single submitter clinical testing
OMIM RCV002291319 SCV000028968 pathogenic Heterotaxy, visceral, 5, autosomal 2009-03-01 no assertion criteria provided literature only

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