ClinVar Miner

Submissions for variant NM_021828.5(HPSE2):c.1194T>C (p.Ala398=)

gnomAD frequency: 0.00507  dbSNP: rs111762231
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 RCV000902586 SCV001047015 benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502673 SCV002805437 likely benign Urofacial syndrome type 1 2021-07-18 criteria provided, single submitter clinical testing

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