ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) (rs759237437)

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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 RCV000216252 SCV000271941 likely benign not specified 2019-01-17 criteria provided, single submitter clinical testing The c.2874_2891dup (p.Ser959_Ser964dup) variant in LOXHD1 is classified as likel y benign because it has been identified in 0.20% (147/76596) of European chromos omes by gnomAD (http://gnomad.broadinstitute.org) and it is an in-frame duplicat ion of 6 amino acids in a repeat region of LOXHD1 with multiple in-frame deletio ns and duplications in the general population. ACMG/AMP criteria: BS1_Supporting , BP3.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730518 SCV000858260 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing

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