ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.145G>A (p.Val49Met) (rs1063385)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000034063 SCV000373574 likely benign Somatotroph adenoma 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV000563699 SCV000672437 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-29 criteria provided, single submitter clinical testing Conflicting evidence
Invitae RCV000897518 SCV001041666 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000034063 SCV001138358 uncertain significance Somatotroph adenoma 2019-05-28 criteria provided, single submitter clinical testing
GeneReviews RCV000034063 SCV000057993 unknown Somatotroph adenoma 2012-06-21 no assertion criteria provided curation Converted during submission to Uncertain significance.

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