ClinVar Miner

Submissions for variant NM_017777.3(MKS1):c.958G>A (p.Val320Ile) (rs386834053)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000735871 SCV000864077 likely pathogenic Leber congenital amaurosis 6; Meckel syndrome type 1 2018-01-01 criteria provided, single submitter research The individual also harbours an earlier reported variant SCV000323252.1 by us, responsible for OMIM phenotype condition 613826.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000735097 SCV000863292 uncertain significance not provided 2018-09-06 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050040 SCV000082449 probable-pathogenic Meckel syndrome type 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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