ClinVar Miner

Submissions for variant NM_014284.3(NCDN):c.974C>T (p.Thr325Met)

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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 RCV004077137 SCV003528986 uncertain significance not specified 2021-07-14 criteria provided, single submitter clinical testing The c.974C>T (p.T325M) alteration is located in exon 3 (coding exon 3) of the NCDN gene. This alteration results from a C to T substitution at nucleotide position 974, causing the threonine (T) at amino acid position 325 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003992718 SCV004811659 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing NCDN: BP4

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