ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6052-11G>C (rs112564978)

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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 RCV000036221 SCV000059873 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 6052-11G>C in Intron 44 of MYO7A: This variant is not expected to have clinical significance because it has been identified in 4.4% (150/3442) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs112564978).
Illumina Clinical Services Laboratory,Illumina RCV000405948 SCV000374503 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313677 SCV000374504 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370790 SCV000374505 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing

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