ClinVar Miner

Submissions for variant NM_000301.5(PLG):c.330C>T (p.Asn110=)

gnomAD frequency: 0.34390  dbSNP: rs4757
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001641591 SCV001855819 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789461 SCV002031465 benign Angioedema, hereditary, 4 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789460 SCV002031466 benign Plasminogen deficiency, type I 2021-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001641591 SCV002401630 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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