ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.570+44G>T

gnomAD frequency: 0.77720  dbSNP: rs944513
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001655312 SCV001867738 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789479 SCV002031979 benign PSAT deficiency 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789480 SCV002031980 benign Neu-Laxova syndrome 2 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655312 SCV005266951 benign not provided criteria provided, single submitter not provided

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