ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) (rs1049324)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087087 SCV000551569 likely benign Charcot-Marie-Tooth disease axonal type 2F 2020-11-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762456 SCV000892778 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000762456 SCV001144216 likely benign not provided 2019-04-26 criteria provided, single submitter clinical testing

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