ClinVar Miner

Submissions for variant NM_017739.3(POMGNT1):c.1867= (p.Val623=) (rs6659553)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153758 SCV000203332 benign not specified 2015-03-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000153758 SCV000269705 benign not specified 2014-11-26 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.1867A) is the minor allele. This a llele (A) has been identified in 17% (759/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs6710212) and thus meets criteria to be classified as benign.
Mendelics RCV000986313 SCV001135279 benign Muscle eye brain disease 2019-05-28 criteria provided, single submitter clinical testing

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