ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1312-8C>T (rs772505507)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000220628 SCV000270259 likely benign not specified 2015-04-14 criteria provided, single submitter clinical testing c.1312-8C>T in intron 11 of HARS: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the spl ice consensus sequence and is therefore unlikely to impact splicing. It has been identified in 5/66712 European chromosomes by the Exome Aggregation Consortium (ExAC,
Illumina Clinical Services Laboratory,Illumina RCV000340292 SCV000453309 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000650158 SCV000771995 likely benign Usher syndrome, type 3B 2019-12-31 criteria provided, single submitter clinical testing

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