ClinVar Miner

Submissions for variant NM_020381.4(PDSS2):c.1146G>A (p.Ser382=)

gnomAD frequency: 0.00022  dbSNP: rs192206443
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 RCV000891598 SCV001035422 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294406 SCV002587281 uncertain significance Focal segmental glomerulosclerosis 2022-08-19 criteria provided, single submitter clinical testing

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