ClinVar Miner

Submissions for variant NM_000311.5(PRNP):c.246_269del (p.60_67PHGGGWGQ[3])

dbSNP: rs138688873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000990274 SCV000766289 benign Huntington disease-like 1 2024-01-18 criteria provided, single submitter clinical testing
Mendelics RCV000990274 SCV001141202 likely benign Huntington disease-like 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001706695 SCV001869853 benign not provided 2018-11-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27793473)

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