ClinVar Miner

Submissions for variant NM_000327.3(ROM1):c.868del (p.Gln290fs) (rs548233813)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000177039 SCV000228851 benign not specified 2014-08-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346504 SCV000372853 likely benign Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000177039 SCV000568349 likely benign not specified 2016-07-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001507210 SCV001024679 benign Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 2020-05-22 criteria provided, single submitter clinical testing
Mendelics RCV000881499 SCV001135032 benign not provided 2019-05-28 criteria provided, single submitter clinical testing

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