ClinVar Miner

Submissions for variant NM_199161.5(SAA1):c.269G>A (p.Gly90Asp)

gnomAD frequency: 0.00076  dbSNP: rs79681911
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 RCV000950760 SCV001097093 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000019735 SCV000040033 pathogenic not specified 1992-03-01 no assertion criteria provided literature only

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