ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.318G>C (p.Pro106=) (rs750349055)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438162 SCV000522625 likely benign not specified 2017-08-04 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 RCV000470231 SCV000561802 likely benign Charcot-Marie-Tooth disease axonal type 2F 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000438162 SCV001476479 benign not specified 2020-06-02 criteria provided, single submitter clinical testing

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