ClinVar Miner

Submissions for variant NM_024666.5(AAGAB):c.100G>A (p.Val34Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004186287 SCV003680138 uncertain significance not specified 2022-12-06 criteria provided, single submitter clinical testing The c.100G>A (p.V34M) alteration is located in exon 2 (coding exon 2) of the AAGAB gene. This alteration results from a G to A substitution at nucleotide position 100, causing the valine (V) at amino acid position 34 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003546922 SCV004265751 benign not provided 2023-09-20 criteria provided, single submitter clinical testing

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