ClinVar Miner

Submissions for variant NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) (rs146802593)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624371 SCV000741434 uncertain significance Inborn genetic diseases 2016-03-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729767 SCV000857456 likely pathogenic not provided 2018-06-07 criteria provided, single submitter clinical testing
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe RCV001093591 SCV000998905 pathogenic Oculocutaneous albinism type 4 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000729767 SCV001246806 pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing

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