ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4842C>T (p.Thr1614=) (rs779714173)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000616076 SCV000713318 likely benign not specified 2017-07-05 criteria provided, single submitter clinical testing p.Thr1614Thr in exon 31 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 4/22822 South A sian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broad institute.org; dbSNP rs779714173).

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