ClinVar Miner

Submissions for variant NM_199161.5(SAA1):c.209C>T (p.Ala70Val)

gnomAD frequency: 0.54337  dbSNP: rs1136743
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761767 SCV000891957 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000761767 SCV001851706 benign not provided 2020-04-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23437051)
Breakthrough Genomics, Breakthrough Genomics RCV000761767 SCV005223633 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000019736 SCV000040034 pathogenic not specified 1995-06-01 no assertion criteria provided literature only

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