ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) (rs104894623)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992662 SCV001145109 likely pathogenic not provided 2019-04-30 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/282556 chr). Predicted to have a damaging effect on the protein. Statistically associated with disease, but in a single family (p < 0.05).
OMIM RCV000008951 SCV000029161 pathogenic Charcot-Marie-Tooth disease and deafness 1999-06-01 no assertion criteria provided literature only
GeneReviews RCV000008951 SCV000055664 pathologic Charcot-Marie-Tooth disease and deafness 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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