ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.714C>T (p.Ala238=) (rs727503125)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150921 SCV000198550 likely benign not specified 2013-12-20 criteria provided, single submitter clinical testing Ala238Ala in exon 7 of LDB3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Ala238Ala in exon 7 of LDB3 (allele frequency = n/a)
GeneDx RCV000150921 SCV000524612 likely benign not specified 2016-02-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000537866 SCV000638677 likely benign Myofibrillar myopathy, ZASP-related 2017-07-17 criteria provided, single submitter clinical testing

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