ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.4611C>T (p.Cys1537=)

gnomAD frequency: 0.00021  dbSNP: rs189561302
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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 RCV000243808 SCV000316012 likely benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000243808 SCV000967238 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Cys1537Cys in exon 30 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.10% (8/7914) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs189561302).
Labcorp Genetics (formerly Invitae), Labcorp RCV000885431 SCV001028871 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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