ClinVar Miner

Submissions for variant NM_001100913.3(PACS2):c.1867A>G (p.Asn623Asp)

gnomAD frequency: 0.00001  dbSNP: rs782192283
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001981444 SCV002220146 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001981444 SCV005193631 uncertain significance not provided criteria provided, single submitter not provided

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