ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4671G>A (p.Leu1557=) (rs763078543)

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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 RCV000608285 SCV000712025 likely benign not specified 2016-04-18 criteria provided, single submitter clinical testing p.Leu1557Leu in exon 30 of LOXHD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, and it is not loc ated within the splice consensus sequence. It has been identified in 1/7914 Sou th Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs763078543).
Invitae RCV000971125 SCV001118745 likely benign not provided 2019-01-22 criteria provided, single submitter clinical testing

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