ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.348G>A (p.Lys116=)

gnomAD frequency: 0.00971  dbSNP: rs41277897
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652406 SCV000774276 benign Neu-Laxova syndrome 2 2025-02-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326485 SCV004032856 benign not provided 2024-11-01 criteria provided, single submitter clinical testing PSAT1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003326485 SCV005266947 benign not provided criteria provided, single submitter not provided

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