ClinVar Miner

Submissions for variant NM_012208.4(HARS2):c.259C>T (p.Arg87Cys) (rs754069818)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,University Hospital Copenhagen RCV000782172 SCV000920640 likely pathogenic Perrault syndrome 2 2019-05-20 no assertion criteria provided clinical testing Variant detected as compound heterozygous, together with c.137T>A in a female with perrault syndrome

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