ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.6261G>A (p.Gln2087=)

gnomAD frequency: 0.00004  dbSNP: rs181127717
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000345737 SCV000336161 likely benign not specified 2015-10-14 criteria provided, single submitter clinical testing
Invitae RCV002059137 SCV002475290 benign not provided 2024-01-27 criteria provided, single submitter clinical testing

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