ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.133-14C>T (rs116228809)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155224 SCV000204910 benign not specified 2012-04-30 criteria provided, single submitter clinical testing 133-14C>T in Intron 03 of MYO7A: This variant is not expected to have clinical s ignificance because it has been identified in 2.0% (74/3610) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs116228809).
Illumina Clinical Services Laboratory,Illumina RCV000389307 SCV000374159 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287875 SCV000374160 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326626 SCV000374161 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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