ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.105+115G>A

gnomAD frequency: 0.56622  dbSNP: rs1615006
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001532773 SCV001748478 benign Citrullinemia type I 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001713105 SCV001944158 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713105 SCV005321407 benign not provided criteria provided, single submitter not provided

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