ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) (rs948962)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036209 SCV000059861 benign not specified 2006-10-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036209 SCV000230608 benign not specified 2014-11-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000036209 SCV000303307 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309473 SCV000374484 benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366542 SCV000374485 benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274378 SCV000374486 benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Mendelics RCV000988616 SCV001138395 benign Deafness, autosomal recessive 2 2019-05-28 criteria provided, single submitter clinical testing

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