ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.723C>T (p.Pro241=)

gnomAD frequency: 0.00012  dbSNP: rs202067277
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000323412 SCV000367706 likely benign Acute intermittent porphyria 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001517487 SCV001725996 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001517487 SCV004129463 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing HMBS: BP4, BP7

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