ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6192G>A (p.Lys2064=) (rs876657498)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217937 SCV000270387 likely benign not specified 2016-02-25 criteria provided, single submitter clinical testing p.Lys2064Lys in exon 40 of LOXHD1: This variant is not expected to have clinica l significance because it does not alter an amino acid residue and it is not loc ated within the splice consensus sequence.
Counsyl RCV000667018 SCV000791405 likely benign Deafness, autosomal recessive 77 2017-05-10 criteria provided, single submitter clinical testing

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