ClinVar Miner

Submissions for variant NM_014365.2(HSPB8):c.503C>T (p.Ala168Val) (rs373049356)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086445 SCV000761749 likely benign Charcot-Marie-Tooth disease, type 2L 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761845 SCV000892049 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing

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