Submissions for variant NM_000190.4(HMBS):c.606G>T (p.Val202=)

gnomAD frequency: 0.23280  dbSNP: rs1131488

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243574	SCV000302903	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000262555	SCV000367702	benign	Acute intermittent porphyria	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000402560	SCV000483217	likely benign	Congenital disorder of glycosylation	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000243574	SCV000516852	benign	not specified	2015-07-06	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001510018	SCV001716946	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001510018	SCV005218152	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000262555	SCV000733005	benign	Acute intermittent porphyria		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000243574	SCV001922572	benign	not specified		no assertion criteria provided	clinical testing