ClinVar Miner

Submissions for variant NM_015062.5(PPRC1):c.4551-5G>A

gnomAD frequency: 0.00439  dbSNP: rs61751509
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000956859 SCV001103650 benign not provided 2017-08-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000956859 SCV004127261 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing PPRC1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000956859 SCV005322316 benign not provided criteria provided, single submitter not provided

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